Canonical Allele Identifier: CA3306293

Gene: GFM2 HEXB

Linked Data

• dbSNP Id: rs571851391
• ExAC: 5:74017480 T / C
• gnomAD v2: 5-74017480-T-C
• gnomAD v3: 5-74721655-T-C
• gnomAD v4: 5-74721655-T-C
• MyVariant Identifiers: chr5:g.74017480T>C (hg19) ; chr5:g.74721655T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721655T>C , CM000667.2:g.74721655T>C	GRCh38
NC_000005.9:g.74017480T>C , CM000667.1:g.74017480T>C	GRCh37
NC_000005.8:g.74053236T>C	NCBI36
NG_009770.1:g.41512T>C
NG_011531.1:g.50563A>G
NG_009770.2:g.86633T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2340A>G (GFM2) MANE Select	ENSP00000296805.3:p.Ter780=
ENST00000296805.7:c.2340A>G (GFM2)	ENSP00000296805.3:p.Ter780=
ENST00000345239.6:c.2199A>G (GFM2)	ENSP00000296804.3:p.Ter733=
ENST00000503312.5:c.608+219T>C (HEXB)
ENST00000505859.1:c.255+219T>C (HEXB)
ENST00000509430.5:c.2340A>G (GFM2)	ENSP00000427004.1:p.Ter780=
ENST00000513867.1:n.380+219T>C (HEXB)
ENST00000515125.5:n.743A>G (GFM2)
NM_001281302.1:c.2436A>G (GFM2)	NP_001268231.1:p.Ter812=
NM_032380.4:c.2340A>G (GFM2)	NP_115756.2:p.Ter780=
NM_170691.2:c.2199A>G (GFM2)	NP_733792.1:p.Ter733=
NR_104006.1:n.2659A>G (GFM2)
XM_006714721.2:c.2205A>G (GFM2)	XP_006714784.1:p.Ter735=
XM_011543690.1:c.2340A>G (GFM2)	XP_011541992.1:p.Ter780=
XM_017009986.1:c.2340A>G (GFM2)	XP_016865475.1:p.Ter780=
XR_002956185.1:n.3626A>G (GFM2)
NM_032380.5:c.2340A>G (GFM2) MANE Select	NP_115756.2:p.Ter780=
NM_001281302.2:c.2436A>G (GFM2)	NP_001268231.1:p.Ter812=
NM_170691.3:c.2199A>G (GFM2)	NP_733792.1:p.Ter733=
NR_104006.2:n.2405A>G (GFM2)